目的:进行性肌阵挛性癫痫,1A型(EPM1,Unverricht-Lundborg病),是一种罕见的神经退行性常染色体隐性遗传疾病,其特征是刺激敏感和行动性肌阵鸣和强直阵挛性癫痫发作。患者出现神经症状,包括共济失调,意图震颤,和构音障碍,随着时间的推移,具有相对有限和非特异性的MRI萎缩发现。该疾病对脑代谢的影响在很大程度上是未知的。
方法:18例EPM1患者(9M,9F)接受了临床评估和神经心理学测试,其中包括智力评估,口头记忆,以及精神运动和执行功能。在1.5TMRI系统上进行磁共振波谱(MRS)和成像(MRI)。2DMRS化学位移成像(CSI)图(TE=270)是从大脑的以下区域获得的:基底神经节,丘脑,脑岛,splenium,枕骨白质和灰质,和N-乙酰天冬氨酸(NAA)-,胆碱(Cho)-,和乳酸(Lac)与肌酸(Cr)的比率进行了分析。十名年龄和性别匹配的健康受试者(500万,5F)用作MRS的对照。
结果:我们发现了涉及乳酸的显著脑代谢变化,NAA,还有胆碱,广泛分布在基底神经节,丘脑核,脑岛,EPM1患者的枕骨区。Changes,尤其是在右边的脑岛,基底神经节,还有丘脑,与EPM1患者的智力能力以及精神运动和执行功能受损有关。
结论:多重脑代谢改变提示存在与EPM1进展相关的神经变性。代谢物比例的变化与该疾病引起的神经认知功能障碍有关。然而,MRS结果在理解EPM1病理生理学中的作用值得进一步研究.
Progressive myoclonic epilepsy, type 1A (EPM1, Unverricht-Lundborg disease), is a rare neurodegenerative autosomal recessive disorder characterized by stimulus-sensitive and action myoclonus and tonic-clonic epileptic seizures. Patients develop neurological symptoms, including ataxia, intention tremor, and dysarthria, over time, with relatively limited and nonspecific MRI atrophy findings. The effects of the disease on brain metabolism are largely unknown.
Eighteen EPM1 patients (9 M, 9F) underwent clinical evaluation and neuropsychological testing, which included the assessment of intellectual ability, verbal memory, and psychomotor and executive functions. Magnetic resonance spectroscopy (MRS) and imaging (MRI) were performed on a 1.5 T MRI system. 2D MRS chemical shift imaging (CSI) maps (TE = 270) were obtained from the following regions of the brain: basal ganglia, thalamus, insula, splenium, and occipital white and gray matter, and N-acetyl-aspartate (NAA)-, choline (Cho)-, and lactate (Lac)-to-creatine (Cr) ratios were analyzed. Ten healthy age-and sex-matched subjects (5M, 5F) were used as controls for MRS.
We found significant brain metabolic changes involving lactate, NAA, and choline, which are widespread in the basal ganglia, thalamic nuclei, insula, and occipital areas of EPM1 patients. Changes, especially in the right insula, basal ganglia, and thalamus, were associated with intellectual abilities and impairment of the psychomotor and executive functions of EPM1 patients.
Multiple brain metabolic alterations suggest the presence of neurodegeneration associated with EPM1 progression. The changes in metabolite ratios are associated with the neurocognitive dysfunction caused by the disease. However, the role of MRS findings in understanding pathophysiology of EPM1 warrants further studies.